(Q35697998)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22243242%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

title

Enamel malformations associated with a defined dentin sialophosphoprotein mutation in two families (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22243242%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22243242%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

author name string

Hui-Chen Chan

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22243242%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Sudha Rajderkar

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22243242%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Rachel N Milkovich

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22243242%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Karen A Uston

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22243242%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Jung-Wook Kim

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22243242%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

James P Simmer

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22243242%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Jan C-C Hu

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22243242%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

publication date

1 December 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22243242%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Oral Sciences

20 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22243242%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

volume

119 Suppl 1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22243242%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

page(s)

158-167

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22243242%20AND%20SRC:MED&resulttype=core&format=json

Porcine dentin sialoprotein glycosylation and glycosaminoglycan attachments

20 January 2020

cites work

1 reference

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Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone

12 July 2018

1 reference

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Pseudogenization of the tooth gene enamelysin (MMP20) in the common ancestor of extant baleen whales

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266624

Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266624

NMD: RNA biology meets human genetic medicine

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266624

Astacin proteases cleave dentin sialophosphoprotein (Dspp) to generate dentin phosphoprotein (Dpp).

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266624

Regulation of dental enamel shape and hardness

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266624

Key proteolytic cleavage site and full-length form of DSPP

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266624

A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266624

Dentin sialophosphoprotein (DSPP) is cleaved into its two natural dentin matrix products by three isoforms of bone morphogenetic protein-1 (BMP1).

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266624

A mutation in the mouse Amelx tri-tyrosyl domain results in impaired secretion of amelogenin and phenocopies human X-linked amelogenesis imperfecta

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266624

A novel endoplasmic reticulum export signal: proline at the +2-position from the signal peptide cleavage site

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266624

Dentin sialoprotein and dentin phosphoprotein have distinct roles in dentin mineralization

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266624

Flanking signal and mature peptide residues influence signal peptide cleavage

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266624

Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266624

A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266624

Human and mouse enamel phenotypes resulting from mutation or altered expression of AMEL, ENAM, MMP20 and KLK4

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266624

Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266624

A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266624

SCPP gene evolution and the dental mineralization continuum

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266624

Porcine dentin sialophosphoprotein: length polymorphisms, glycosylation, phosphorylation, and stability

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266624

A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266624

Disorders of human dentin

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266624

Hereditary dentin defects

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266624

Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266624

Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266624

Mineralized tissue and vertebrate evolution: the secretory calcium-binding phosphoprotein gene cluster

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266624

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266624

Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266624

DSPP mutation in dentinogenesis imperfecta Shields type II

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266624

Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266624

Dentin sialoprotein, dentin phosphoprotein, enamelysin and ameloblastin: tooth-specific molecules that are distinctively expressed during murine dental differentiation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266624

Dentin sialoprotein: biosynthesis and developmental appearance in rat tooth germs in comparison with amelogenins, osteocalcin and collagen type-I.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266624

Signal peptidases recognize a structural feature at the cleavage site of secretory proteins.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266624

Relative levels of mRNA encoding enamel proteins in enamel organ epithelia and odontoblasts

12 July 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0722.2011.00874.X

Dentin sialophosphoprotein knockout mouse teeth display widened predentin zone and develop defective dentin mineralization similar to human dentinogenesis imperfecta type III.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0722.2011.00874.X

Functional splicing assay of DSPP mutations in hereditary dentin defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0722.2011.00874.X

Dentin phosphoprotein frameshift mutations in hereditary dentin disorders and their variation patterns in normal human population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0722.2011.00874.X

Computational prediction of the functional effects of amino acid substitutions in signal peptides using a model-based approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0722.2011.00874.X

Identification of the DSPP mutation in a new kindred and phenotype-genotype correlation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0722.2011.00874.X

Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0722.2011.00874.X

Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0722.2011.00874.X

A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0722.2011.00874.X

A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0722.2011.00874.X

Phenotypes and genotypes in 2 DGI families with different DSPP mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0722.2011.00874.X

De novo mutation in the DSPP gene associated with dentinogenesis imperfecta type II in a Japanese family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0722.2011.00874.X

A novel mutation in the DSPP gene associated with dentinogenesis imperfecta type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0722.2011.00874.X

Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0722.2011.00874.X

Frameshift mutations in dentin phosphoprotein and dependence of dentin disease phenotype on mutation location

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0722.2011.00874.X

Isoelectric focusing of the phosphoprotein of rat-incisor dentin in ampholine and acid pH gradients. Evidence for carrier ampholyte-protein complexes

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22243242

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22243242

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/J.1600-0722.2011.00874.X

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22243242%20AND%20SRC:MED&resulttype=core&format=json

release_4egt4ywztzbqzkyfogps4kldia

20 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/4egt4ywztzbqzkyfogps4kldia

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22243242%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22243242%20AND%20SRC:MED&resulttype=core&format=json